A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871729



Internal ID22646667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74664687..74764386hg38UCSC Ensembl
chr2:74891814..74991513hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3899700
hg1999700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404416
Samples
Known GenesSEMA4F
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871729
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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